A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16904178



Internal ID3603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62820846..62820904hg38UCSC Ensembl
chr1:63286517..63286575hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5432437
Supporting Variants
Samples
Known GenesATG4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16904178
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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